Hemorrhagic shock due to ruptured lower limb vascular malformation in a neurofibromatosis type 1 patient:A case report  

作　　者：Li-Ping Shen Gang Jin Rang-Teng Zhu Han-Tao Jiang 

机构地区：[1]Department of Clinical Laboratory,Taizhou Hospital of Zhejiang Province affiliated to Wenzhou Medical University,Taizhou 318000,Zhejiang Province,China [2]Department of Clinical Laboratory,Enze Hospital,Taizhou Enze Medical Center(Group),Taizhou 318000,Zhejiang Province,China [3]Department of Orthopedics,Taizhou Hospital of Zhejiang Province Affiliated to Wenzhou Medical University,Taizhou 318000,Zhejiang Province,China [4]Department of Orthopedics,Enze Hospital,Taizhou Enze Medical Center(Group),Taizhou 318000,Zhejiang Province,China

出　　处：《World Journal of Clinical Cases》2022年第31期11597-11606,共10页世界临床病例杂志

摘　　要：BACKGROUND Neurofibromatosis type 1(NF-1)is a common autosomal dominant genetic disorder.It is characterized by café-au-lait spots and cutaneous neurofibromas.Although NF-1 typically involves the skin,nerves,bones,and eyes,vascular manifestation in the form of devastating hemorrhage can occur rarely.CASE SUMMARY We present the case of a 47-year-old female with NF-1 who had a ruptured right lower limb arterial malformation.She presented with sudden right lower limb swelling for two hours and symptoms of hemorrhagic shock on admission.The physical examination revealed a right lower limb presenting as elephantiasis and visible dark-brown pigmentation over a large area.Computed tomography angiography showed right lower limb arteriovenous malformation.Therefore,the patient underwent emergency right lower limb digital subtraction angiography(DSA)and vascular embolization after blood transfusions.However,after DSA,vascular embolization,and repeated blood transfusions,the anemia and right lower limb swelling and tenderness did not improve.As a result,the patient underwent right lower extremity above-knee amputation.After amputation,the patient's hemoglobin level improved significantly without blood transfusion,and she was discharged from the hospital after the incision healed.Postoperative pathological examination suggested neurogenic tumors.No other complications had occurred 1-year follow-up.CONCLUSION Vascular malformation and rupture are fatal complications of NF-1.Embolization may not provide complete relief,the patient might need to undergo neurofibroma resection or amputation.

关 键 词：Neurofibromatosis type 1 Vascular malformation Hemorrhagic shock Vascular embolization Above-knee amputation Case report 

分 类 号：R741[医药卫生—神经病学与精神病学]